Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM

Proceedings of the National Academy of Sciences of the United States of America

Volumn 98, Issue 22, 2001, Pages 12614-12619

  Ferrari, Simona ^a   Giliani, Silvia ^a   Insalaco, Antonella ^a   Al Ghonaium, Abdulaziz ^b   Soresina, Anna R ^a   Loubser, Michael ^a   Avanzini, Maria A ^c   Marconi, Massimo ^c   Badolato, Raffaele ^a   Ugazio, Alberto G ^a,f   Levy, Yves ^d   Catalan, Nadia ^e   Durandy, Anne ^e   Tbakhi, Abdelghani ^b   Notarangelo, Luigi D ^a   Plebani, Alessandro ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c UNIVERSITY OF PAVIA   (Italy)

^d HENRI MONDOR HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CD4 ANTIGEN; CD40 ANTIGEN; CYSTEINE; GENE PRODUCT; IMMUNOGLOBULIN M; TUMOR NECROSIS FACTOR RECEPTOR;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANTIGEN EXPRESSION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DENDRITIC CELL; EXON; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFECTION SENSITIVITY; KNOCKOUT MOUSE; MACROPHAGE; MOUSE; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS; T LYMPHOCYTE ACTIVATION;

ANTIGENS, CD40; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; HUMANS; IMMUNOGLOBULIN M; IMMUNOLOGIC DEFICIENCY SYNDROMES; LINKAGE (GENETICS); MALE; MUTATION; X CHROMOSOME;

ANIMALIA;

EID: 0035940417     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.221456898     Document Type: Article

References (32)